Publications:

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Dental DNA as an Indicator of Post-Mortem Interval (PMI): A Pilot Research.

International Journal Of Molecular Sciences

Bianchi, Ilenia I; Grassi, Simone S; Castiglione, Francesca F; Bartoli, Caterina C; De Saint Pierre, Bianca B; Focardi, Martina M; Oliva, Antonio A; Pinchi, Vilma V

Publication Date: 2022-10-25

Variant appearance in text: PDGFRA: 2472C>T

PubMed Link: 36361687

Variant Present in the following documents:

• ijms-23-12896.pdf

View BVdb publication page

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A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Frontiers In Molecular Biosciences

Ng, Cedric Chuan-Young CC; Lim, Sandy S; Lim, Abner Herbert AH; Md Nasir, Nur Diyana ND; Zhang, Jingxian J; Rajasegaran, Vikneswari V; Lee, Jing Yi JY; Kok, Jessica Sook Ting JST; Thike, Aye Aye AA; Lim, Johnathan Xiande JX; Weng, Ruifen R; Yee, Sidney S; Choudhury, Yukti Y; Chan, Jason Yongsheng JY; Tan, Puay Hoon PH; Tan, Min-Han MH; Teh, Bin Tean BT

Publication Date: 2022

Variant appearance in text: rs2228230

PubMed Link: 36213130

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 10

View BVdb publication page

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Gastrointestinal tumors in transplantation: Two case reports and review of literature.

World Journal Of Gastroenterology

Stammler, Romain R; Anglicheau, Dany D; Landi, Bruno B; Meatchi, Tchao T; Ragot, Emilia E; Thervet, Eric E; Lazareth, Hélène H

Publication Date: 2022-09-14

Variant appearance in text: PDGFRA: V824V

PubMed Link: 36160649

Variant Present in the following documents:

• WJG-28-5076.pdf

View BVdb publication page

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Fecal gene detection based on next generation sequencing for colorectal cancer diagnosis.

World Journal Of Gastroenterology

He, Si-Yu SY; Li, Ying-Chun YC; Wang, Yong Y; Peng, Hai-Lin HL; Zhou, Cheng-Lin CL; Zhang, Chuan-Meng CM; Chen, Sheng-Lan SL; Yin, Jian-Feng JF; Lin, Mei M

Publication Date: 2022-07-07

Variant appearance in text: PDGFRA: V824V

PubMed Link: 35978873

Variant Present in the following documents:

• WJG-28-2920.pdf

View BVdb publication page

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Genomic Landscape of RTK/RAS Pathway and Tumor Immune Infiltration as Prognostic Indicator of Lung Adenocarcinoma.

Frontiers In Oncology

Yin, Xiang-Qian XQ; Yin, Xue-Hui XH; Yu, Ya-Qin YQ; Xu, Lang L; Zhang, Mao M

Publication Date: 2022

Variant appearance in text: PDGFRA: 2472C>T; V824V

PubMed Link: 35936718

Variant Present in the following documents:

• Table_4.xlsx, sheet 2

View BVdb publication page

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Progressing Vulvar Melanoma Caused by Instability in cKIT Juxtamembrane Domain: A Case Report and Review of Literature.

Current Oncology (Toronto, Ont.)

Englert-Golon, Monika M; Budny, Bartłomiej B; Lewandowska, Małgorzata M; Burchardt, Bartosz B; Smolarek, Natalia N; Ziemnicka, Katarzyna K; Jagodziński, Paweł Piotr PP; Ruchała, Marek M; Grabowska, Marlena M; Sajdak, Stefan S

Publication Date: 2022-04-29

Variant appearance in text: PDGFRA: 2472C>T; V824V

PubMed Link: 35621644

Variant Present in the following documents:

• Main text
• curroncol-29-00254.pdf

View BVdb publication page

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Germline Variants in Angiogenesis-Related Genes Contribute to Clinical Outcome in Head and Neck Squamous Cell Carcinoma.

Cancers

Butkiewicz, Dorota D; Gdowicz-Kłosok, Agnieszka A; Krześniak, Małgorzata M; Rutkowski, Tomasz T; Łasut-Szyszka, Barbara B; Składowski, Krzysztof K

Publication Date: 2022-04-06

Variant appearance in text: PDGFRA: V824V; rs2228230

PubMed Link: 35406617

Variant Present in the following documents:

• Main text
• cancers-14-01844.pdf

View BVdb publication page

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Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology

Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S

Publication Date: 2022-03-05

Variant appearance in text: PDGFRA: 2472C>T; rs2228230

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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The Molecular Subtype of Adult Acute Lymphoblastic Leukemia Samples Determines the Engraftment Site and Proliferation Kinetics in Patient-Derived Xenograft Models.

Cells

Richter, Anna A; Roolf, Catrin C; Sekora, Anett A; Knuebel, Gudrun G; Krohn, Saskia S; Lange, Sandra S; Krebs, Vivien V; Schneider, Bjoern B; Lakner, Johannes J; Wittke, Christoph C; Kiefel, Christoph C; Jeremias, Irmela I; Murua Escobar, Hugo H; Vollmar, Brigitte B; Junghanss, Christian C

Publication Date: 2022-01-03

Variant appearance in text: PDGFRA: 2472C>T

PubMed Link: 35011712

Variant Present in the following documents:

• Main text
• cells-11-00150.pdf

View BVdb publication page

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The Molecular Subtype of Adult Acute Lymphoblastic Leukemia Samples Determines the Engraftment Site and Proliferation Kinetics in Patient-Derived Xenograft Models.

Cells

Richter, Anna A; Roolf, Catrin C; Sekora, Anett A; Knuebel, Gudrun G; Krohn, Saskia S; Lange, Sandra S; Krebs, Vivien V; Schneider, Bjoern B; Lakner, Johannes J; Wittke, Christoph C; Kiefel, Christoph C; Jeremias, Irmela I; Murua Escobar, Hugo H; Vollmar, Brigitte B; Junghanss, Christian C

Publication Date: 2022-01-03

Variant appearance in text: PDGFRA: 2472C>T

PubMed Link: 35011712

Variant Present in the following documents:

• Main text
• cells-11-00150.pdf

View BVdb publication page

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Pancreatic Cancer-Related Mutational Burden Is Not Increased in a Patient Cohort With Clinically Severe Chronic Pancreatitis.

Clinical And Translational Gastroenterology

Cowan, Robert W RW; Pratt, Erica D ED; Kang, Jin Muk JM; Zhao, Jun J; Wilhelm, Joshua J JJ; Abdulla, Muhamad M; Qiao, Edmund M EM; Brennan, Luke P LP; Ulintz, Peter J PJ; Bellin, Melena D MD; Rhim, Andrew D AD

Publication Date: 2021-11-18

Variant appearance in text: N/A

PubMed Link: 34797250

Variant Present in the following documents:

View BVdb publication page

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Comparative Mutational Profiling of Hematopoietic Progenitor Cells and Circulating Endothelial Cells (CECs) in Patients with Primary Myelofibrosis.

Cells

Farina, Mirko M; Bernardi, Simona S; Polverelli, Nicola N; D'Adda, Mariella M; Malagola, Michele M; Bosio, Katia K; Re, Federica F; Almici, Camillo C; Dunbar, Andrew A; Levine, Ross L RL; Russo, Domenico D

Publication Date: 2021-10-15

Variant appearance in text: PDGFRA: V824V

PubMed Link: 34685741

Variant Present in the following documents:

• Main text
• cells-10-02764.pdf

View BVdb publication page

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Calibration-free NGS quantitation of mutations below 0.01% VAF.

Nature Communications

Dai, Peng P; Wu, Lucia Ruojia LR; Chen, Sherry Xi SX; Wang, Michael Xiangjiang MX; Cheng, Lauren Yuxuan LY; Zhang, Jinny Xuemeng JX; Hao, Pengying P; Yao, Weijie W; Zarka, Jabra J; Issa, Ghayas C GC; Kwong, Lawrence L; Zhang, David Yu DY

Publication Date: 2021-10-21

Variant appearance in text: PDGFRA: 2472C>T; V824=

PubMed Link: 34675197

Variant Present in the following documents:

• 41467_2021_26308_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Establishment and characterization of novel highly aggressive HER2‑positive and triple‑negative breast cancer cell lines.

Oncology Reports

Thongchot, Suyanee S; Jamjuntra, Pranisa P; Prasopsiri, Jaturawitt J; Thuwajit, Peti P; Sawasdee, Nunghathai N; Poungvarin, Naravat N; Warnnissorn, Malee M; Sa-Nguanraksa, Doonyapat D; O-Charoenrat, Pornchai P; Yenchitsomanus, Pa-Thai PT; Thuwajit, Chanitra C

Publication Date: 2021-12

Variant appearance in text: PDGFRA: 2472C>T; V824V

PubMed Link: 34651665

Variant Present in the following documents:

• Main text

View BVdb publication page

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Immunotherapy in Acral and Mucosal Melanoma: Current Status and Future Directions.

Frontiers In Immunology

Mao, Lili L; Qi, Zhonghui Z; Zhang, Li L; Guo, Jun J; Si, Lu L

Publication Date: 2021

Variant appearance in text: rs2228230

PubMed Link: 34149718

Variant Present in the following documents:

• Main text
• fimmu-12-680407.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 34054912

Variant Present in the following documents:

View BVdb publication page

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Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.

International Journal Of Molecular Sciences

Grzywa, Tomasz M TM; Koppolu, Agnieszka A AA; Paskal, Wiktor W; Klicka, Klaudia K; Rydzanicz, Małgorzata M; Wejman, Jarosław J; Płoski, Rafał R; Włodarski, Paweł K PK

Publication Date: 2021-04-09

Variant appearance in text: PDGFRA: 2472C>T; Val824=

PubMed Link: 33918692

Variant Present in the following documents:

• Main text

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: PDGFRA: V824V; rs2228230

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: PDGFRA: 2472C>T; V824V

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Combined assay of Circulating Tumor DNA and Protein Biomarkers for early noninvasive detection and prognosis of Non-Small Cell Lung Cancer.

Journal Of Cancer

Yin, Jian-Xin JX; Hu, Wen-Wei WW; Gu, Hua H; Fang, Jian-Min JM

Publication Date: 2021

Variant appearance in text: PDGFRA: 2472C>T; V824=

PubMed Link: 33442424

Variant Present in the following documents:

• jcav12p1258s2.xlsx, sheet 8
• jcav12p1258s2.xlsx, sheet 7
• jcav12p1258s2.xlsx, sheet 6

View BVdb publication page

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Dysregulated PDGFR alpha expression and novel somatic mutations in colorectal cancer: association to RAS wild type status and tumor size.

Journal Of Translational Medicine

Ben Jemii, Nadia N; Tounsi-Kettiti, Haifa H; Yaiche, Hamza H; Mezghanni, Najla N; Jaballah Gabteni, Amira A; Fehri, Emna E; Ben Fayala, Chayma C; Abdelhak, Sonia S; Boubaker, Samir S

Publication Date: 2020-11-19

Variant appearance in text: PDGFRA: V824V; rs2228230

PubMed Link: 33213472

Variant Present in the following documents:

• Main text
• 12967_2020_Article_2614.pdf

View BVdb publication page

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Acute Radiation Colitis after Preoperative Short-Course Radiotherapy for Rectal Cancer: A Morphological, Immunohistochemical and Genetic Study.

Cancers

Zanelli, Magda M; Ciarrocchi, Alessia A; De Petris, Giovanni G; Zizzo, Maurizio M; Costantini, Massimo M; Bisagni, Alessandra A; Torricelli, Federica F; Nicoli, Davide D; Ramundo, Dafne D; Ricci, Stefano S; Palicelli, Andrea A; Sanguedolce, Francesca F; Ascani, Stefano S; Castro Ruiz, Carolina C; Annessi, Valerio V; Zamponi, Raffaella R; Bortesi, Mara M; Martino, Veronica V; Marchetti, Marialisa M; De Marco, Loredana L

Publication Date: 2020-09-09

Variant appearance in text: PDGFRA: Val824Val

PubMed Link: 32917028

Variant Present in the following documents:

• cancers-12-02571-s001.pdf

View BVdb publication page

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Tissue gene mutation profiles in patients with colorectal cancer and their clinical implications.

Biomedical Reports

Ye, Jun J; Lin, Mei M; Zhang, Chuanmeng C; Zhu, Xiaowei X; Li, Sumeng S; Liu, Hui H; Yin, Jianfeng J; Yu, Hong H; Zhu, Kuichun K

Publication Date: 2020-07

Variant appearance in text: PDGFRA: V824V; rs2228230

PubMed Link: 32440349

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: PDGFRA: 2472C>T; Val824=

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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A Functional Synonymous Variant in PDGFRA Is Associated with Better Survival in Acral Melanoma.

Journal Of Cancer

Dai, Jie J; Yang, Lu L; Xu, Tianxiao T; Si, Lu L; Cui, Chuanliang C; Sheng, Xinan X; Chi, Zhihong Z; Mao, Lili L; Lian, Bin B; Tang, Bixia B; Bai, Xue X; Zhou, Li L; Li, Siming S; Wang, Xuan X; Yan, Xieqiao X; Kong, Yan Y; Guo, Jun J

Publication Date: 2020

Variant appearance in text: rs2228230

PubMed Link: 32226509

Variant Present in the following documents:

• Main text
• jcav11p2945.pdf

View BVdb publication page

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Squamous cell transformation as a mechanism of acquired resistance to tyrosine kinase inhibitor in EGFR-mutated lung adenocarcinoma: a report of two cases.

Respirology Case Reports

Uruga, Hironori H; Fujii, Takeshi T; Nakamura, Nobuyuki N; Moriguchi, Shuhei S; Kishi, Kazuma K; Takaya, Hisashi H

Publication Date: 2020-03

Variant appearance in text: PDGFRA: V824V

PubMed Link: 31956415

Variant Present in the following documents:

• Main text
• RCR2-8-e00521.pdf

View BVdb publication page

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Inter-laboratory proficiency testing scheme for tumour next-generation sequencing in Ontario: a pilot study.

Current Oncology (Toronto, Ont.)

Spence, T T; Stickle, N N; Yu, C C; Chow, H H; Feilotter, H H; Lo, B B; McCready, E E; Sadikovic, B B; Siu, L L LL; Bedard, P L PL; Stockley, T L TL

Publication Date: 2019-12

Variant appearance in text: PDGFRA: V824V

PubMed Link: 31896942

Variant Present in the following documents:

• Main text

View BVdb publication page

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The Discordance of Gene Mutations between Circulating Tumor Cells and Primary/Metastatic Tumor.

Molecular Therapy Oncolytics

Wang, Qi Q; Zhao, Lanbo L; Han, Lu L; Tuo, Xiaoqian X; Ma, Sijia S; Wang, Yiran Y; Feng, Xue X; Liang, Dongxin D; Sun, Chao C; Wang, Qing Q; Song, Qing Q; Li, Qiling Q

Publication Date: 2019-12-20

Variant appearance in text: PDGFRA: V824V

PubMed Link: 31650022

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: N/A

PubMed Link: 31640808

Variant Present in the following documents:

View BVdb publication page

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: PDGFRA: V824V; rs2228230

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Multiple gastrointestinal stromal tumors: analysis of clinicopathologic characteristics and prognosis of 20 patients.

Cancer Management And Research

Li, Kai K; Tjhoi, Weh W; Shou, Chunhui C; Yang, Weili W; Zhang, Qing Q; Liu, Xiaosun X; Yu, Jiren J

Publication Date: 2019

Variant appearance in text: PDGFRA: V824V

PubMed Link: 31413638

Variant Present in the following documents:

• Main text
• cmar-11-7031.pdf

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: PDGFRA: 2472C>T

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

Plos One

Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M

Publication Date: 2019

Variant appearance in text: PDGFRA: 2472C>T; Val824Val

PubMed Link: 30794603

Variant Present in the following documents:

• pone.0212370.s008.xlsx, sheet 1

View BVdb publication page

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Specific V-ATPase expression sub-classifies IDHwt lower-grade gliomas and impacts glioma growth in vivo.

Ebiomedicine

Terrasi, Andrea A; Bertolini, Irene I; Martelli, Cristina C; Gaudioso, Gabriella G; Di Cristofori, Andrea A; Storaci, Alessandra Maria AM; Formica, Miriam M; Bosari, Silvano S; Caroli, Manuela M; Ottobrini, Luisa L; Vaccari, Thomas T; Vaira, Valentina V

Publication Date: 2019-03

Variant appearance in text: PDGFRA: V824V; rs2228230

PubMed Link: 30737087

Variant Present in the following documents:

• mmc1.xlsx, sheet 9

View BVdb publication page

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Antitumor profile of the PI3K inhibitor ZSTK474 in human sarcoma cell lines.

Oncotarget

Namatame, Nachi N; Tamaki, Naomi N; Yoshizawa, Yuya Y; Okamura, Mutsumi M; Nishimura, Yumiko Y; Yamazaki, Kanami K; Tanaka, Miwa M; Nakamura, Takuro T; Semba, Kentaro K; Yamori, Takao T; Yaguchi, Shin-Ichi SI; Dan, Shingo S

Publication Date: 2018-10-12

Variant appearance in text: PDGFRA: V824V

PubMed Link: 30416685

Variant Present in the following documents:

• Main text
• oncotarget-09-35141.pdf

View BVdb publication page

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Validation of the Oncomine™ focus panel for next-generation sequencing of clinical tumour samples.

Virchows Archiv : An International Journal Of Pathology

Williams, Hannah L HL; Walsh, Kathy K; Diamond, Austin A; Oniscu, Anca A; Deans, Zandra C ZC

Publication Date: 2018-10

Variant appearance in text: PDGFRA: 2472C>T

PubMed Link: 30105577

Variant Present in the following documents:

• 428_2018_2411_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Bmc Urology

Kim, Young Saing YS; Kim, Kyung K; Kwon, Ghee-Young GY; Lee, Su Jin SJ; Park, Se Hoon SH

Publication Date: 2018-07-31

Variant appearance in text: PDGFRA: 2472C>T; V824V

PubMed Link: 30064409

Variant Present in the following documents:

• 12894_2018_380_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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PDGFRA gene, maternal binge drinking and obstructive heart defects.

Scientific Reports

Tang, Xinyu X; Eberhart, Johann K JK; Cleves, Mario A MA; Li, Jingyun J; Li, Ming M; MacLeod, Stewart S; Nembhard, Wendy N WN; Hobbs, Charlotte A CA

Publication Date: 2018-07-23

Variant appearance in text: rs2228230

PubMed Link: 30038270

Variant Present in the following documents:

• Main text
• 41598_2018_Article_29160.pdf

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: N/A

PubMed Link: 29974678

Variant Present in the following documents:

View BVdb publication page

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Cancer panel analysis of circulating tumor cells in patients with breast cancer.

Oncology Letters

Lee, Cham Han CH; Lee, Soo Jeong SJ; Choi, Sung Ho SH; Ahn, Sei Hyun SH; Son, Byung Ho BH; Lee, Jong Won JW; Yu, Jong Han JH; Kwon, Nak-Jung NJ; Lee, Woo Chung WC; Yang, Kap-Seok KS; Lee, Dong Hyoung DH; Han, Du Yeol DY; Choi, Mi So MS; Park, Pyeong-Soo PS; Lee, Hyun Kyung HK; Kim, Myoung Shin MS; Lee, Jinseon J; Jeon, Byung Hee BH

Publication Date: 2018-07

Variant appearance in text: PDGFRA: V824V

PubMed Link: 29928447

Variant Present in the following documents:

• Main text

View BVdb publication page

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Transcriptomic analysis and mutational status of IDH1 in paired primary-recurrent intrahepatic cholangiocarcinoma.

Bmc Genomics

Peraldo-Neia, C C; Ostano, P P; Cavalloni, G G; Pignochino, Y Y; Sangiolo, D D; De Cecco, L L; Marchesi, E E; Ribero, D D; Scarpa, A A; De Rose, A M AM; Giuliani, A A; Calise, F F; Raggi, C C; Invernizzi, P P; Aglietta, M M; Chiorino, G G; Leone, F F

Publication Date: 2018-06-05

Variant appearance in text: PDGFRA: 2472C>T

PubMed Link: 29871612

Variant Present in the following documents:

• 12864_2018_4829_MOESM13_ESM.xlsx, sheet 1

View BVdb publication page

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Germline mutation in the TP53 gene in uveal melanoma.

Scientific Reports

Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I

Publication Date: 2018-05-16

Variant appearance in text: PDGFRA: V824V; rs2228230

PubMed Link: 29769598

Variant Present in the following documents:

• 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Feasibility study of cancer genome alterations identified by next generation sequencing: ABC study.

Japanese Journal Of Clinical Oncology

Naito, Yoichi Y; Takahashi, Hideaki H; Shitara, Kohei K; Okamoto, Wataru W; Bando, Hideaki H; Kuwata, Takeshi T; Kuboki, Yasutoshi Y; Matsumoto, Shingo S; Miki, Izumi I; Yamanaka, Takeharu T; Watanabe, Atsushi A; Kojima, Motohiro M

Publication Date: 2018-06-01

Variant appearance in text: PDGFRA: 2472C>T; V824V

PubMed Link: 29659903

Variant Present in the following documents:

• hyy052supplementaltable1ionver1.xls, sheet 1

View BVdb publication page

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Identification of novel mutations in FFPE lung adenocarcinomas using DEPArray sorting technology and next-generation sequencing.

Journal Of Applied Genetics

Lee, Ji Won JW; Shin, Jong-Yeon JY; Seo, Jeong-Sun JS

Publication Date: 2018-08

Variant appearance in text: PDGFRA: V824V; rs2228230

PubMed Link: 29525983

Variant Present in the following documents:

• 13353_2018_439_MOESM3_ESM.xlsx, sheet 2
• 13353_2018_439_MOESM4_ESM.xlsx, sheet 1
• 13353_2018_Article_439.pdf

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Development of a targeted sequencing approach to identify prognostic, predictive and diagnostic markers in paediatric solid tumours.

Oncotarget

Izquierdo, Elisa E; Yuan, Lina L; George, Sally S; Hubank, Michael M; Jones, Chris C; Proszek, Paula P; Shipley, Janet J; Gatz, Susanne A SA; Stinson, Caedyn C; Moore, Andrew S AS; Clifford, Steven C SC; Hicks, Debbie D; Lindsey, Janet C JC; Hill, Rebecca M RM; Jacques, Thomas S TS; Chalker, Jane J; Thway, Khin K; O'Connor, Simon S; Marshall, Lynley L; Moreno, Lucas L; Pearson, Andrew A; Chesler, Louis L; Walker, Brian A BA; De Castro, David Gonzalez DG

Publication Date: 2017-12-19

Variant appearance in text: rs2228230

PubMed Link: 29340109

Variant Present in the following documents:

• oncotarget-08-112036-s003.xlsx, sheet 1

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Single nucleotide polymorphisms as prognostic and predictive biomarkers in renal cell carcinoma.

Oncotarget

Garrigós, Carmen C; Espinosa, Marta M; Salinas, Ana A; Osman, Ignacio I; Medina, Rafael R; Taron, Miguel M; Molina-Pinelo, Sonia S; Duran, Ignacio I

Publication Date: 2017-12-05

Variant appearance in text: rs2228230

PubMed Link: 29290970

Variant Present in the following documents:

• Main text
• oncotarget-08-106551.pdf

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Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Translational Oncology

Lee, Ji Yun JY; Kim, Kyung K; Sung, Hyun Hwan HH; Jeon, Hwang Gyun HG; Jeong, Byong Chang BC; Seo, Seong Il SI; Jeon, Seong Soo SS; Lee, Hyun Moo HM; Choi, Han-Yong HY; Kwon, Ghee-Young GY; Kim, Kyoung-Mee KM; Lee, Jeeyun J; Lim, Ho Yeong HY; Park, Se Hoon SH

Publication Date: 2018-02

Variant appearance in text: PDGFRA: 2472C>T; V824V

PubMed Link: 29161613

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

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Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.

Genome Medicine

Li, Shuyu D SD; Ma, Meng M; Li, Hui H; Waluszko, Aneta A; Sidorenko, Tatyana T; Schadt, Eric E EE; Zhang, David Y DY; Chen, Rong R; Ye, Fei F

Publication Date: 2017-10-30

Variant appearance in text: PDGFRA: 2472C>T; V824V

PubMed Link: 29082853

Variant Present in the following documents:

• 13073_2017_478_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Attenuated PDGF signaling drives alveolar and microvascular defects in neonatal chronic lung disease.

Embo Molecular Medicine

Oak, Prajakta P; Pritzke, Tina T; Thiel, Isabella I; Koschlig, Markus M; Mous, Daphne S DS; Windhorst, Anita A; Jain, Noopur N; Eickelberg, Oliver O; Foerster, Kai K; Schulze, Andreas A; Goepel, Wolfgang W; Reicherzer, Tobias T; Ehrhardt, Harald H; Rottier, Robbert J RJ; Ahnert, Peter P; Gortner, Ludwig L; Desai, Tushar J TJ; Hilgendorff, Anne A

Publication Date: 2017-11

Variant appearance in text: rs2228230

PubMed Link: 28923828

Variant Present in the following documents:

• EMMM-9-1504-s001.pdf

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Cancer gene panel analysis of cultured circulating tumor cells and primary tumor tissue from patients with breast cancer.

Oncology Letters

Hwang, Eunjoo E; Uh, Ji-Hyun JH; Lee, Hye Seon HS; Lee, Cham Han CH; Lee, Soo Jeong SJ; Ahn, Sei Hyun SH; Son, Byung Ho BH; Lee, Jong Won JW; Yu, Jong Han JH; Kwon, Nak-Jung NJ; Lee, Woo Chung WC; Yang, Kap-Seok KS; Choi, Sung Ho SH; Kim, Myoung Shin MS; Lee, Jinseon J; Jeon, Byung Hee BH

Publication Date: 2017-06

Variant appearance in text: PDGFRA: V824V

PubMed Link: 28599463

Variant Present in the following documents:

• Main text

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Systematic genomic and translational efficiency studies of uveal melanoma.

Plos One

Johnson, Chelsea Place CP; Kim, Ivana K IK; Esmaeli, Bita B; Amin-Mansour, Ali A; Treacy, Daniel J DJ; Carter, Scott L SL; Hodis, Eran E; Wagle, Nikhil N; Seepo, Sara S; Yu, Xiaoxing X; Lane, Anne Marie AM; Gragoudas, Evangelos S ES; Vazquez, Francisca F; Nickerson, Elizabeth E; Cibulskis, Kristian K; McKenna, Aaron A; Gabriel, Stacey B SB; Getz, Gad G; Van Allen, Eliezer M EM; 't Hoen, Peter A C PAC; Garraway, Levi A LA; Woodman, Scott E SE

Publication Date: 2017

Variant appearance in text: PDGFRA: 2472C>T; V824V

PubMed Link: 28594900

Variant Present in the following documents:

• pone.0178189.s004.xls, sheet 1

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Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.

British Journal Of Cancer

de Kock, Leanne L; Rivera, Barbara B; Revil, Timothée T; Thorner, Paul P; Goudie, Catherine C; Bouron-Dal Soglio, Dorothée D; Choong, Catherine S CS; Priest, John R JR; van Diest, Paul J PJ; Tanboon, Jantima J; Wagner, Anja A; Ragoussis, Jiannis J; Choong, Peter Fm PF; Foulkes, William D WD

Publication Date: 2017-06-06

Variant appearance in text: PDGFRA: V824V; rs2228230

PubMed Link: 28524158

Variant Present in the following documents:

• bjc2017147x1.pdf

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Evaluation of a novel approach to circulating tumor cell isolation for cancer gene panel analysis in patients with breast cancer.

Oncology Letters

Lee, Soo Jeong SJ; Lee, Cham Han CH; Choi, Sung Ho SH; Ahn, Sei Hyun SH; Son, Byung Ho BH; Lee, Jong Won JW; Yu, Jong Han JH; Kwon, Nak-Jung NJ; Lee, Woo Chung WC; Yang, Kap-Seok KS; Lee, Dong Hyoung DH; Han, Du Yeol DY; Choi, Mi So MS; Park, Pyeong-Soo PS; Lee, Hyun Kyung HK; Kim, Myoung Shin MS; Lee, Jinseon J; Jeon, Byung Hee BH

Publication Date: 2017-05

Variant appearance in text: PDGFRA: V824V

PubMed Link: 28521409

Variant Present in the following documents:

• Main text

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Uterine epithelioid leiomyosarcoma with c-kit expression and YWHAE gene rearrangement: a case report of a diagnostic pitfall of uterine sarcoma.

Diagnostic Pathology

Kubo, Terufumi T; Sugita, Shintaro S; Wada, Ryuichi R; Kikuchi, Noriaki N; Iwasaki, Masahiro M; Ito, Yumika Y; Sugawara, Taro T; Fujita, Hiromi H; Emori, Makoto M; Tanaka, Ryoichi R; Hirano, Hiroshi H; Saito, Tsuyoshi T; Hasegawa, Tadashi T

Publication Date: 2017-03-14

Variant appearance in text: rs2228230

PubMed Link: 28288693

Variant Present in the following documents:

• Main text
• 13000_2017_Article_615.pdf

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